Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

Eur J Transl Myol 2021 May 3;31(2):9798. doi: 10.4081/ejtm.2021.9798.

PMID: 33942602

Corrado Angelini

Highlights: In LOPD, this condition can be treated by ERT, but also benefits from concomitant diet and aerobic exercise therapy.

Abstract

Background: Pompe disease, also known as glycogenosis type 2, is caused by a lack of lysosomal alpha-glucosidase, a lysosomal hydrolase, and has two subtypes: infantile and late-onset (LOPD). Enzyme Replacement Therapy (ERT) helps cure the myopathy in LOPD, but a low carbohydrate, high protein diet and aerobic exercise therapy may also be beneficial.

Methods: From 65 Late onset Pompe cases, we were able to acquire a self-reported evaluation from 58 late-onset Pompe patients; the majority of them offered a favorable efficacy rating of Enzyme Replacement Therapy, and they were categorized as Responders or Non-Responders using a self-administered scale. Age, sex, BMI, Gardner-Medwin-Walton scale, and six-minute walking test (6MWT) were all followed in a cooperative investigation of a clinical group with LOPD.

Results: The pre-ERT walking distance (p<0.035) and the use of a regular diet, exercise, or both (p<0.029) were the only clinical characteristics that were substantially related with a Responder category.

Conclusion: The current study demonstrates that ERT can assist patients with LOPD, but that they also benefit from a combination of diet and aerobic exercise treatment.

Keywords: Pompe disease, Enzyme Replacement Therapy, exercise, nutrition